(Q40576493)

21 September 2017

1 reference

title

Lysosomal storage diseases in adults (English)

1 reference

21 September 2017

Rapola J

1

1 reference

21 September 2017

1 September 1994

1 reference

Pathology, Research and Practice

21 September 2017

1 reference

21 September 2017

190

1 reference

21 September 2017

8

1 reference

21 September 2017

759-766

1 reference

Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions.

21 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Adult Forms of Metachromatic Leukodystrophy: Clinical and Biochemical Approach

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

1 reference

7 January 2021

Partial enzyme deficiencies: residual activities and the development of neurological disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Biochemical Basis of Late-Onset Neurolipidoses

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Prevalent and rare mutations among Gaucher patients

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Diagnosis and pathogenesis of late-onset genetic metabolic encephaloneuromyopathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

The Clinical Aspects of Adult Hexosaminidase Deficiencies

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Molecular Genetics of Metachromatic Leukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Aspartylglucosaminuria in the United States

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Neuropsychiatric aspects of adult-onset Tay-Sachs disease: two case reports with several new findings

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Spectrum of mutations in aspartylglucosaminuria

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

A simple chromogenic assay for arylsulfatase A

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Adult Type of Neuronal Ceroid Lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Genetic diagnosis of Gaucher's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Adult GM1-gangliosidosis: clinical patterns and rectal biopsy.

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Hexosaminidase A deficiency in adults

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Depletion of cellular beta-hexosaminidase by imipramine is prevented by dexamethasone; implications for treating psychotic hexosaminidase-A deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Molecular basis of different forms of metachromatic leukodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

DNA mutation analysis of Gaucher patients

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Neuropathology of late onset gangliosidoses. A review

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Clinical and Molecular Heterogeneity in Hereditary β-Galactosidase Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Clinical Aspects of Niemann-Pick Type C Disease in the Adult

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia

1 reference

https://api.crossref.org/works/10.1016%2FS0344-0338%2811%2980422-X

7 January 2021

10.1016/S0344-0338(11)80422-X

Identifiers

DOI

0 references

PubMed ID

7831151

1 reference

PubMed ID

7831151